Distinct novel mutations affecting the same base in the
            <i>NIPA1</i>
            gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families

Yang, Keqin; Song, Chun Ho; Guo, Hui; Xu, Pingyi; Huang, Weijun; Zhou, Yan; Sun, Jiandong; Li, Caixia; Du, Yong; Li, Xunhua; Liu, Zhuolin; Geng, Deqin; Maxwell, Patrick H.; Zhang, Cheng; Wang, Yiming

doi:10.1002/humu.20126

Cited by 59 publications

(44 citation statements)

References 32 publications

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“…However, one of the families showed a broad range of ageat-onset (ranging between 17 and 40 years) with a much earlier onset observed in younger generations. 2 In contrast, a British SPG6 family demonstrated phenotypic variations between affected family members. In addition, an impression of anticipation was mentioned in the report.…”

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confidence: 89%

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Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus)

et al. 2006

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We describe a Brazilian family in which inheritance of a G106R mutation in the SPG6 gene (also know as NIPA1) resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigations indicated that this family has a pure form of spastic paraplegia. All patients presented with gait difficulty in their twenties, progressing to frank spastic paraplegia during the next decade. Our report further supports evidence that mutations in SPG6 cause ADHSP.

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confidence: 89%

“…1 To date, two missense mutations, T45R and G106R, were identified in four SPG6 families originating from Irish, Iraqi, Chinese, and British populations. [1][2][3] Here, we report on the clinical and genetic findings of a Brazilian ADHSP family.…”

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confidence: 96%

Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus)

et al. 2006

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“…The T45R mutation occurs at a conserved residue at the interface of the first TM and the first putative outside loop, which would be expected to extend the first TM by three amino acids. More recently, three different research groups identified a missense substitution, G106R, in a number of large unrelated families (14,95,115). The G106R mutation is located in a highly conserved amino acid region within the central portion of the third TM.…”

Section: Strategy For Identifying Novel Mg 2؉ Transportersmentioning

confidence: 99%

Molecular identification of ancient and modern mammalian magnesium transporters

Quamme

2010

American Journal of Physiology-Cell Physiology

169

182

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handling is poorly understood.The purpose of this review is to describe some of the recent insights into the identification and function of mammalian Mg 2ϩ transporters. There is a large body of physiological evidence for mammalian Mg 2ϩ transporters, which have only begun to be identified on the molecular level (11, 51,109,117,135,148,170). In particular, I will detail, at some length, the novel Mg 2ϩ transporters that have been identified over the last several years. These will be examined from the perspective of the established and more characterized mammalian Mg 2ϩ channels, mitochondrial Mrs2 and TRPM7/6. I will briefly review plant, bacterial, and yeast transporters as they relate to our newly identified mammalian Mg 2ϩ transporters, because some of these proteins share characteristics with the more ancient forms of transporters. The identification and characterization of plant, prokaryote, and yeast Mg 2ϩ transporters have been extensively reviewed elsewhere (35, 70, 73, 138).

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“…To date, there has been no systematic genetic and clinical analysis of a large cohort of AD-HSPs in China and only several SPG4 families [10,11,12,13], a few SPG3 families [14,15,16,17]and 3 SPG6 families [17,18 have been] reported. Lin et al [19] mapped the causative gene for an AD-HSP family to 3q24-q26 and revealed that it was caused by a missense mutation in the gene for the acetyl-CoA transporter (SLC33A1) .…”

Section: Introductionmentioning

confidence: 99%

Mutation and Clinical Characteristics of Autosomal-Dominant Hereditary Spastic Paraplegias in China

Luo¹,

Chen²,

Zhan³

et al. 2014

Neurodegener Dis

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Background: Hereditary spastic paraplegias constitute a heterogeneous group of inherited neurodegenerative disorders. To date, there has been no systematic mutation and clinical analysis for a large group of autosomal-dominant hereditary spastic paraplegias in China. Objective: The purpose of this study was to investigate the mutation frequencies and the clinical phenotypes of Chinese spastic paraplegia patients. Methods: Direct sequencing and a multiplex ligation-dependent probe amplification assay were applied to detect the mutations of SPAST and ATL1 in 54 autosomal-dominant hereditary spastic paraplegia probands and 66 isolated cases. Next, mutations in NIPA1, KIF5A, REEP1 and SLC33A1 were detected in the negative patients. Subsets of spastic paraplegia patients were genotyped for the modifying variants. Further, detailed clinical data regarding the genetically diagnosed families were analysed. Results: Altogether, 27 families were diagnosed as SPG4, 3 as SPG3A and 1 as SPG6. No mutations in KIF5A, REEP1 or SLC33A1 were found; 9 SPAST mutations were novel. There was no p.S44L or p.P45Q variant in SPAST and no p.G563A variant in HSPD1 in either the 120 spastic paraplegia patients or the 500 controls. There was a remarkable clinical difference between the SPG4 and non-SPG4 patients and even between genders among the SPG4 patients. Non-penetrance and remarkable gender difference were observed in some SPG4 and SPG3A families. Conclusions: Our data confirm that hereditary spastic paraplegias in China represent a heterogeneous group of genetic neurodegenerative disorders in autosomal-dominant and apparently sporadic forms. Novel genotype-phenotype correlations were established.

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Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families

Cited by 59 publications

References 32 publications

Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus)

Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus)

Molecular identification of ancient and modern mammalian magnesium transporters

Mutation and Clinical Characteristics of Autosomal-Dominant Hereditary Spastic Paraplegias in China

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